8 Things You Should Know About ALS

The disease may be nicknamed after former Yankee's slugger Lou Gehrig. But theoretical physicist Stephen Hawking is arguably the most famous sufferer of amyotrophic lateral sclerosis—or ALS.

"[ALS] is a neurodegenerative disease where nerve cells in the spinal cord and brain stem die, which leads to progressive muscle weakness and death," says Martina Wiedau, MD, director of the ALS Clinic and Research Center at UCLA.

The irony, Wiedau says, is that Hawking's battle with ALS is quite different than the average ALS sufferer's. While Hawking developed the disease in his very early 20s, the average ALS patient is diagnosed during middle-age—usually sometime in his or her 50s, she explains.

Also, the fact that Hawking—who will turn 75 next month—has lived with the disease for decades is unusual. "The average patient passes away within 4 to 5 years," Wiedau says. "Hawking is an outlier," she says.

Those aren't the only surprising (and tragic) features of this rare disease. Keep reading. (Want to pick up some healthier habits? Sign up to get healthy living tips and more delivered straight to your inbox!)

When nerve cells begin to die due to ALS, the first symptom is usually muscle weakness. That weakness can show up anywhere in a sufferer's body, but tends to present first in their hands, legs, or mouth.

"Someone may notice they can't lift their feet well, or they have problems with stumbles," Wiedau explains. "Others may be clumsy with their hands, like they can't put keys in locks." Problems speaking or articulating words are also one of the early symptoms she sees in her clinic.

In each case, these muscle weaknesses worsen and spread to the other parts of a person's body.

The loss of muscle bulk and functionality that ALS sufferers cope with isn't painful, Wiedau says. Some patients may experience discomfort when they can no longer switch their body position, and so spend all day in a wheelchair or in bed. But ALS rarely causes pain, she says.

While some ALS sufferers are like Hawking—and manage to live with a slowly-progressing version of the disease for many years—most patients experience a rapid loss in motor function, which eventually leads to problems eating and breathing, Wiedau says.

Death can come from starvation if an ALS patient decides to stop receiving food through a feeding tube. But typically, sufferers pass away due to suffocation when the muscles they use to inhale and exhale fail, she says.

There is no cure for ALS. "We have one FDA approved drug [for the disease], and it's shown to extend life by an average of 3 months," Wiedau explains.

All other treatment options involve "palliative" care to help people cope with their symptoms, she says. But those treatments don't relieve or slow the progression of those symptoms.

Asked if strength training can help slow the muscle weakness associated with ALS, Wiedau says just the opposite is true. Strength training—because it involves the breakdown of muscle—tends to speed up the process of degeneration.

If a patient shows up in Wiedau's clinic with the symptoms mentioned above, she'll usually perform a complete neurological exam to look for other signs of the disease.

She mentions "brisk or hyperactive reflexes" in certain parts of the body that a patient usually won't be able to recognize on her own. "We can do some imaging studies or blood tests to find evidence that supports an ALS diagnosis, but there is no lab test that 100% confirms it," she adds.

Wiedau says there are always "3 or 4" new ALS drugs in some stage of testing. But because the disease is so little understood, it's difficult to develop good treatment options.

Apart from the drug mentioned above that extends life by 3 months, "none of these has so far been shown to be effective," she adds. "But work is ongoing." One recent effort involving stem cells helped a man with ALS regain his ability to walk.

One thing Wiedau says she struggles with: Because of the dire nature of the disease and the lack of treatment options, many patients go looking for cures on the Internet. "Every ALS physician deals with patients who are desperate to find treatments," she says. "We see patients spend tens of thousands of dollars online on things that we know are not working or that are doing harm, and that can be very difficult."